• Title/Summary/Keyword: gene rearrangement

Search Result 61, Processing Time 0.024 seconds

A Case of T-cell Primary Pulmonary Lymphoma Diagnosed by $TCR{\gamma}$ gene rearrangement ($TCR{\gamma}$ 유전자 재배열로 진단된 T세포 원발성 폐림프종 1예)

  • Choi, Young Mee;Kim, Seung Joan;Kwon, Soon Seog;Kim, Young Kyoon;Kim, Kwan Hyoung;Moon, Hwa Sik;Park, Sung Hak;Song, Jeong Sup
    • Tuberculosis and Respiratory Diseases
    • /
    • v.43 no.6
    • /
    • pp.1001-1007
    • /
    • 1996
  • 반복되는 흉막염 및 폐렴을 주소로 내원한 30세 남자환자에서 경기관지 폐생검과 흉수내 림프구에 대한 유세포 분석 및 T세포 수용체 유전자 재배열 분석을 실시하였다. 경기관지 폐생검 조직의 연역조직화학 염색상 대부분의 림프구가 T세포 표식자인 UCHLl 에 대해 강하게 염색되었고, B세포 표식자인 L26에 대해서는 거의 염색되지 않았다. 흉수에서 추출한 림프구의 유세포 분석상 CD3양성 CD2양성인 T림프구가 대부분이었고, 이들 림프구에 대해 중합효소연쇄반응을 이용한 T세포 수용체 유전자 재배열 분석을 하였더니 $TCR{\gamma}$ 유전자 재배열과 클론성을 관찰할 수 있었다. T세포 원발성 폐림프종으로 진단하였고, 문헌고찰과 함께 보고하는 바이다.

  • PDF

Fine Needle Aspiration Cytology of Palpable Lymph Nodes -A Single Institutional Experience of 1,346 Cases- (촉지 림프절의 세침흡인 세포검사 - 단일 기관의 1,346예 경험 -)

  • Shin, Dong-Hoon;Kim, Jee-Yeon;Kang, Hyun-Jeong;Kim, Ick-Doo;Sol, Mee-Young;Choi, Kyung-Un
    • The Korean Journal of Cytopathology
    • /
    • v.18 no.2
    • /
    • pp.126-132
    • /
    • 2007
  • The aim of this study was to evaluate the diagnostic value of fine needle aspiration cytology (FNAC) for the assessment of palpable enlarged lymph nodes. The authors reviewed the results of 1,346 FNACs of palpable enlarged lymph nodes performed at Pusan National University Hospital from 1998 to 2004. Of the 1,346 cases, 1,265 (94.0%) were satisfactory and 81 (6.0%) unsatisfactory. Cytologic diagnoses were judged in 488 cases, based on subsequent histologic diagnoses, clinical follow up, or both. Global results for all malignancies (lymphoid and non-lymphoid neoplasms) based on cases with final diagnoses, showed a sensitivity of 87.4% and a specificity of 98.7%. The overall diagnostic accuracy was 93,2%, and the false negative rate reduced from 12,6% to 7,3% when lymphomatous cases were excluded. The annual data for this period showed that the number of diagnostic lymph node biopsies and the rate of inadequately sampled material markedly decreased. Gene rearrangement studies for IgH and TCR ${\gamma}$ were helful in 30 cases. FNAC is a useful initial diagnostic procedure for the evaluation of palpable enlarged lymph nodes. However, the technique should be assisted by the appropriate ancillary studies and by proper interpretation by a cytopathologist.

Renal Lymphoma with Mesenteric Lymphomatosis in a Cat

  • Jeon, Jin-ha;Song, Doo-won;Ro, Woong-bin;Kim, Heyong-seok;Lee, Ga-won;Cho, Jun-ho;Jeong, Woo-chang;Kim, Soo-hyeon;Sur, Jung-hyang;Park, Hee-myung
    • Journal of Veterinary Clinics
    • /
    • v.37 no.4
    • /
    • pp.208-212
    • /
    • 2020
  • A 6-year-old castrated male Russian Blue cat was presented for evaluation of dyschezia. Abdominal ultrasound revealed hyperechoic nodules in both kidneys, heterogeneous mass in abdomen, and extensive mesenteric thickening with multiple hypoechoic nodules. Computed tomography showed multiple hypodense lesions in both kidneys and diffuse nodular infiltration around the mesentery. Fine needle aspirates (FNA) acquired under ultrasound guidance from the mesentery consisted of large lymphocytes which have round to irregular nuclei with granular chromatin, prominent nucleoli and a small amount of basophilic cytoplasm. Polymerase chain reaction (PCR) for antigen receptor gene rearrangement result of FNA sample revealed a T-cell malignancy. The cat died from acute renal failure after 1 cycle of modified Madison-Wisconsin L-CHOP protocol. Postmortem examination revealed bilaterally enlarged lumpy-bumpy shaped kidneys. Histopathologic examination showed an infiltration of malignant lymphocytes into the renal parenchyma and mesentery. Immunohistochemical staining of the renal sample displayed a negative expression of CD3, PAX5, MUM-1, and CD79. The clinical features and prognosis of the cat with renal lymphoma with mesenteric lymphomatosis have been described in this report.

Transformation and Mutagenesis of the Nematode-trapping Fungus Monacrosporium sphaeroides by Restriction Enzyme-mediated Integration (REMI)

  • Xu Jin;Mo Ming-He;Zhou Wei;Huang Xiao-Wei;Zhang Ke-Qin
    • Journal of Microbiology
    • /
    • v.43 no.5
    • /
    • pp.417-423
    • /
    • 2005
  • In this study, the nematode-trapping fungus, Monacrosporium sphaeroides, was transformed with a plasmid harboring the hygromycin B phosphotransferase gene, via restriction enzyme-mediated integration (REMI). Frequencies of up to 94 transformants ${\mu}g^{-1}$ per linearized plasmid DNA were obtained by optimizing the PEG concentration, as well as the category and quantity of the added restriction enzyme. $90\%$ of the transformants were determined to be stable for drug resistance when 20 randomly selected transformants were tested. Southern analyses revealed that the transforming DNA was integrated into the M. sphaeroides genome either with or without rearrangement. Five mitotic stable mutant strains were obtained using this approach, all of which had been altered with regard to sporulation capacity and pathogenicity toward nematodes. Southern blot analyses of the five mutants revealed that foreign plasmid DNA had integrated into the genome. Three of the mutants, Tms2316, Tms3583 and Tms1536, exhibited integration at a single location, whereas the remaining two, Tms32 and Tms1913, manifested integration at double or multiple locations. Our results suggest that the transformation of M. sphaeroides via REMI will facilitate insertional mutagenesis, the functional analysis of a variety of genes, and the tagging or cloning of genes of interest.

Chromosome Imbalances and Alterations of AURKA and MYCN Genes in Children with Neuroblastoma

  • Inandiklioglu, Nihal;Yilmaz, Sema;Demirhan, Osman;Erdogan, seyda;Tanyeli, Atila
    • Asian Pacific Journal of Cancer Prevention
    • /
    • v.13 no.11
    • /
    • pp.5391-5397
    • /
    • 2012
  • Background: Neuroblastoma (NB), like most human cancers, is characterized by genomic instability, manifested at the chromosomal level as allelic gain, loss or rearrangement. Genetics methods, as well as conventional and molecular cytogenetics may provide valuable clues for the identification of target loci and successful search for major genes in neuroblastoma. We aimed to investigate AURKA and MYCN gene rearrangements and the chromosomal aberrations (CAs) to determine the prognosis of neuroblastoma. Methods: We performed cytogenetic analysis by G-banding in 25 cases [11 girls (44%) and 14 boys (66%)] and in 25 controls. Fluorescence in situ hybridization (FISH) with AURKA and MYCN gene probes was also used on interphase nuclei to screen for alterations. Results: Some 18.4% of patient cells exhibited CAs., with a significant difference between patient and control groups in the frequencies (P<0.0001). Some 72% of the cells had structural aberrations, and only 28% had numerical chnages in patients. Structural aberrations consisted of deletions, translocations, breaks and fragility in various chromosomes, 84% and 52% of the patients having deletions and translocations, respectively. Among these expressed CAs, there was a higher frequency at 1q21, 1q32, 2q21, 2q31, 2p24, 4q31, 9q11, 9q22, 13q14, 14q11.2, 14q24, and 15q22 in patients. 32% of the patients had chromosome breaks, most frequently in chromosomes 1, 2, 3, 4, 5, 8, 9, 11, 12, 19 and X. The number of cells with breaks and the genomic damage frequencies were higher in patients (p<0.001). Aneuploidies in chromosomes X, 22, 3, 17 and 18 were most frequently observed. Numerical chromosome abnormalities were distinctive in 10.7% of sex chromosomes. Fragile sites were observed in 16% of our patients. Conclusion: Our data confirmed that there is a close correlation between amplification of the two genes, amplification of MYCN possibly contributing significantly to the oncogenic properties of AURKA. The high frequencies of chromosomal aberrations and amplifications of AURKA and MYCN genes indicate prognostic value in children with neuroblastomas and may point to contributing factors in their development.

Strategies for the development of GM crops in accordance with the environmental risk assessment (I) (환경위해성 평가를 고려한 GM작물의 개발 전략 (I))

  • Lee, Shin-Woo
    • Journal of Plant Biotechnology
    • /
    • v.38 no.2
    • /
    • pp.125-129
    • /
    • 2011
  • Environmental risk assessment (RA) is essential prior to the environmental release of GM crops. RA, however, costs at least 7 to 15 million US dollars and requires several years to complete field tests. Therefore, it is strongly suggested that developers of GM crops must consider all criteria for RA at the beginning stage of the development if it aims for commercialization. Previous review papers have pointed out that the "death valley" for the commercialization of GM crops is the screening stage of early GM events since many candidates are given up due to insufficient data on the molecular characterization of a GM event such as inserted gene's copy number, position of inserted site of a chromosome, flanking sequence of recombinant T-DNA, rearrangement of chromosome, and knock out of endogenous gene of host plant. Recently, Rural Development Administration (RDA) in South Korea has launched a Grand National Project named as "Next Generation of BioGreen 21 Project" from 2011 to 2020 and research funding for the development of global GM crops has been allocated to accelerate the commercialization of GM crops. In this regard, I strongly suggest that researchers involved in the development of GM crops for commercialization must conduct RA by themselves at the screening stage of pre-GM event based on the data for molecular characterization.

A Case Report of the Primary Lung Lymphoma (폐 종괴로 발현한 원발성 폐림프종 치험 1예)

  • Kim, Ye-Ree;Youn, Seong-Yuk;Yoo, Kwang-Ha;Ahn, Chul-Min;Kim, Hyung-Joong;Jin, Choon-Jo
    • Tuberculosis and Respiratory Diseases
    • /
    • v.47 no.2
    • /
    • pp.272-278
    • /
    • 1999
  • The primary lymphoma in the lung is very rare. Moot of the primary pulmonary lymphomas, which represent 3-4 % of extra-nodal lymphomas, are low-grade B-cell lymphoma. The low-grade B-cell lymphomas progress slowly and the prognosis of these are more favorable than that of the nodal lymphomas. However, high-grade forms progress rapidly with more severe course. The diagnosis of primary pulmonary lymphomas generally relies on the histopathologic findings of lung specimens obtained by surgical excision of the lesions or open-lung biopsy. Recently, less aggressive biopsies(transbronchial, transthoracic) and/or immunocyto-chemical, immunochemical and gene rearrangement studies on materials obtained by bronchoalveolar lavage have been used occasionally. The treatment of the primary pulmonary lymphomas has not been precisely codified. Several clinical data suggest that limited surgery or non-aggressive chemotherapy can provide long-term survival in patients with such slowly developing neoplasm, and demonstrated the need for the development of noninvasive diagnootic methods. In this study, we report a case of high-grade B-cell lymphoma of the lung which was treated with combination chemotherapy.

  • PDF

Effect of Radiotherapy on Chromosomal Aberration in Cancer Patients (암환자에서 방사선치료에의한 염색체이상)

  • Chun, Ha-Chung;Lee, Myung-Za;Yoo, Myung-Soo
    • Radiation Oncology Journal
    • /
    • v.11 no.1
    • /
    • pp.43-50
    • /
    • 1993
  • We evaluated frequency and types of chromosomal aberrations by ionizing radiation in cancer patients treated with radiotherapy in our institution. Twenty-five patients with various types of carcinomas such as lung, uterine cervix, esophagus, rectum, head and neck and pancreatic cancers were studied immediately before and after external beam radiotherapy. The frequency of aberrant metaphase prior to treatment was $4.93{\%}$, which was higher than that of control group. Especially in lung cancer, the freuqency of aberrant metaphase was three times higher than control group. A comparison of chromosomal abnormalities observed before and after radiotherapy demonstrated that proportion of aberrant rnetaphases was significantly inreased to $22.13{\%}$. Major chromosomal aberrations like structural abnormalities showed remarkalbe increase from 65.45 to $88.45{\%}$ after the treatment. Also the numbers of chromosomal alterations per cell were increased by a factor of 6.5. Aberrations with two or more break points were more prominently increased, compared with aberrations with single break point. The number of chromosomal break points was noted to be higher than expected value in No.1, 3, 8 and 11 chromosomes and lower in No.13, 15, 17 and 21 chromosomes. Based on this study, we believe that the distribution of chromosomal breakage is related with gene and chromosomal rearrangement which could result in the development of cancers.

  • PDF

Application of DNA Probe Method for Detection of 2,4-Dichlorophenoxyacetic Acid Degrading Bacteria in Soil (DNA Probes에 의한 토양의 이사디 (2,4-D) 분해세균의 검출)

  • Ka, Jong-Ok
    • Applied Biological Chemistry
    • /
    • v.39 no.5
    • /
    • pp.403-408
    • /
    • 1996
  • Total bacterial community DNA, which was extracted from microcosm soil and field soil after 2,4-D amendments, was analyzed on Southern blots, using the tfdA gene probe derived from plasmid pJP4 and the Spa probe from Sphingomonas paucimobilis. Southern blot analyses with total bacterial DNA extracted from soils Inoculated with Pseudomonas cepacia/pJP4 revealed that DNA probe method could detect the 2,4-D degrading bacteria down to $10^5\;cells/g$ dry soil. In the microcosm experiment, there was a good correlation between 2,4-D degradation and banding patterns in hybridization analyses performed after each 2,4-D treatment using the two probes. When bacterial DNA extracted from microcosm soil was hybridized with the Spa probe, a change in the position of hybrid bands was observed over time in a Southern blot, suggesting that population change or possibly genetic rearrangement in 2,4-D degrading microbial populations occurred in this soil. With the Spa probe, one hybrid DNA band was persistently observed throughout the five 2,4-D additions. When bacterial DNA isolated from the field soil was probed with the tfdA and Spa, strong hybridization signal was observed in the 100 ppm-treated subplot, weak signal In the 10 ppm-treated subplot, and no significant signal in the 1 ppm-treated and control subplots. The data show that DNA probe analyses were capable of detecting and discriminating the indigenous 2,4-D degrading microbial populations in soil amended with 2,4-D under laboratory and field conditions.

  • PDF

Biological Function and Structure of Transposable Elements (이동성 유전인자의 구조 및 생물학적 기능)

  • Kim, So-Won;Kim, Woo Ryung;Kim, Heui-Soo
    • Journal of Life Science
    • /
    • v.29 no.9
    • /
    • pp.1047-1054
    • /
    • 2019
  • Transposable elements (TEs) occupy approximately 45% of the human genome and can enter functional genes randomly. During evolutionary radiation, multiple copies of TEs are produced by duplication events. Those elements contribute to biodiversity and phylogenomics. Most of them are controlled by epigenetic regulation, such as methylation or acetylation. Every species contains their own specific mobile elements, and they are divided into DNA transposons and retrotransposons. Retrotransposons can be divided by the presence of a long terminal repeat (LTR). They show various biological functions, such as promoter, enhancer, exonization, rearrangement, and alternative splicing. Also, they are strongly implicated to genomic instability, causing various diseases. Therefore, they could be used as biomarkers for the diagnosis and prognosis of diseases such as cancers. Recently, it was found that TEs could produce miRNAs, which play roles in gene inhibition through mRNA cleavage or translational repression, binding seed regions of target genes. Studies of TE-derived miRNAs offer a potential for the expression of functional genes. Comparative analyses of different types of miRNAs in various species and tissues could be of interest in the fields of evolution and phylogeny. Those events allow us to understand the importance of TEs in relation to biological roles and various diseases.